osteochondrodysplasia Terminal limb defects Acheiropodia Acheiropody acheiropodia MESH:C536014 ORDO:931 ICD10:Q74.8 OMIM:200500 ORDO/DO term Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance. Aleijadinhos (Brazilian type) Horn-Kolb Syndrome Wikipedia:Acheiropodia DOID:0050603 Gautier Koscielny UMLS:C0265559 acheiropody Toes absent